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proximale myotone myopathie (aandoening)
proximale myotone myopathie
myotonische dystrofie type 2
MD type 2
proximale myotone dystrofie
Ricker-syndroom
ziekte van Ricker
PROMM
Proximal myotonic myopathy
Myotonic dystrophy type 2
Ricker syndrome
Ricker disease
A multisystemic disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Patients usually present during adulthood. There are no reports of congenital or childhood onset but a rare juvenile form of the disease has been described. The disease is transmitted in an autosomal dominant manner and is caused by expansion of a CCTG repeat in intron 1 of the CNBP gene (3q21).
Id715317001
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.1
TermMyotone aandoeningen
SNOMED CT to Orphanet simple map606
SNOMED CT to ICD-10 extended map
TargetG71.1
RuleTRUE
AdviceALWAYS G71.1
CorrelationSNOMED CT source code to target map code correlation not specified